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Genetic Disorders
Genetic Disorders


Test Name: Alpha & Beta Thalassaemia Comprehensive Study
Compliance:CE-IVD, LDT, RUO
Test Description:Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. Alpha thalassemia intermedia, or hemoglobin H disease, causes hemolytic anemia. Alpha thalassemia major with hemoglobin Bart's usually results in fatal hydrops fetalis. Beta thalassemia major causes hemolytic anemia, poor growth, and skeletal abnormalities during infancy.
Methodology:PCR hybridization detection of Thalassaemia hotspot detection, PCR-Sanger sequencing analysis and Deletion/Duplication analysis of HBA and HBB genes
Gene Name:HBA1, HBA2, HBB
Protein Name:
Specimen Requirements:EDTA Blood (5mL)
Storage Condition:Ambient Temperature / 4℃ (if overnight is needed)
Turn Around Time:20 working days from day of specimen received
OMIM:
Genetic Home Reference:
Phone: +852.2986.1213
Fax:+852.2527.7028
E-mail:contact@hk-mpdc.com
27/F., Strand 50, No.50 Bonham Strand, Sheung Wan, Hong Kong
Opening Hours
Mondays to Fridays: 09:00-18:00
Saturdays: 09:00-16:00
Sundays and Public Holidays: Closed

For specimen pickup arrangements, please phone +852.2986.1213


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